Canonical Allele Identifier: CA10444850
Community Standard Title: NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
Gene: MED12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71137772G>C , CM000685.2:g.71137772G>C GRCh38
NC_000023.10:g.70357622G>C , CM000685.1:g.70357622G>C GRCh37
NC_000023.9:g.70274347G>C NCBI36
NG_012808.1:g.24217G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005120.3:c.5873G>C MANE Select NP_005111.2:p.Gly1958Ala
ENST00000374080.8:c.5873G>C MANE Select ENSP00000363193.3:p.Gly1958Ala
NM_005120.2:c.5873G>C NP_005111.2:p.Gly1958Ala
ENST00000333646.10:c.5423G>C ENSP00000333125.7:p.Gly1808Ala
ENST00000333646.11:c.5753G>C ENSP00000333125.8:p.Gly1918Ala
ENST00000374080.7:c.5873G>C ENSP00000363193.3:p.Gly1958Ala
ENST00000374102.5:c.5870G>C ENSP00000363215.1:p.Gly1957Ala
ENST00000374102.6:c.5882G>C ENSP00000363215.2:p.Gly1961Ala
ENST00000444034.1:c.535G>C
ENST00000444034.2:c.848G>C ENSP00000404373.2:p.Gly283Ala
ENST00000685182.1:n.2571G>C
ENST00000686169.1:n.2259G>C
ENST00000686548.1:c.*5778G>C ENSP00000509582.1:n.*5778G>C
ENST00000687161.1:n.2588G>C
ENST00000687382.1:c.5873G>C ENSP00000510724.1:p.Gly1958Ala
ENST00000687542.1:n.672G>C
ENST00000687701.1:n.2632G>C
ENST00000687973.1:n.546G>C
ENST00000688079.1:n.3868G>C
ENST00000688508.1:n.1433G>C
ENST00000688663.1:c.*2794G>C ENSP00000509348.1:n.*2794G>C
ENST00000688774.1:c.651G>C ENSP00000508823.1:p.Arg217Ser
ENST00000688881.1:n.2536G>C
ENST00000688993.1:n.2253G>C
ENST00000689489.1:n.192G>C
ENST00000689768.1:n.4492G>C
ENST00000690145.1:c.5879G>C ENSP00000508818.1:p.Gly1960Ala
ENST00000690242.1:c.5882G>C ENSP00000510090.1:p.Gly1961Ala
ENST00000690250.1:n.3551G>C
ENST00000690807.1:c.733-84G>C ENSP00000510476.1:n.733-84G>C
ENST00000690828.1:n.6138G>C
ENST00000691113.1:c.4352G>C ENSP00000509755.1:n.4352G>C
ENST00000691426.1:n.5172G>C
ENST00000691909.1:n.2593G>C
ENST00000692304.1:c.5870G>C ENSP00000508427.1:p.Gly1957Ala
ENST00000692893.1:n.3191G>C
ENST00000692964.1:n.2716G>C
ENST00000693182.1:n.751G>C
ENST00000693391.1:c.3827G>C ENSP00000509563.1:p.Gly1276Ala
XM_005262317.1:c.5882G>C XP_005262374.1:p.Gly1961Ala
XM_005262319.1:c.5882G>C XP_005262376.1:p.Gly1961Ala